MCID: ATM002
MIFTS: 46

Autoimmune Polyendocrine Syndrome Type 1

Categories: Rare diseases, Immune diseases, Reproductive diseases, Endocrine diseases

Aliases & Classifications for Autoimmune Polyendocrine Syndrome Type 1

MalaCards integrated aliases for Autoimmune Polyendocrine Syndrome Type 1:

Name: Autoimmune Polyendocrine Syndrome Type 1 12 53 15
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 12 53
Autoimmune Polyendocrinopathy Syndrome Type 1 53 37
Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis 53
Autoimmune Polyglandular Syndrome Type 1 53
Autoimmune Polyglandular Syndrome Type I 53
Polyglandular Autoimmune Syndrome Type 1 53
Type I Polyglandular Autoimmune Syndrome 53
Polyglandular Type I Autoimmune Syndrome 73
Autoimmune Polyglandular Syndrome I 12
Whitaker Syndrome 53
Whitaker Syndrom 12
Aps 1 53
Pga 1 53
Pga-I 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0050167
KEGG 37 H01972
UMLS 73 C0085859

Summaries for Autoimmune Polyendocrine Syndrome Type 1

NIH Rare Diseases : 53 Autoimmune polyglandular syndrome type 1 is an inheritedautoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. This syndrome can cause a variety of additional signs and symptoms,  such as weak teeth (enamel hypoplasia) and chronic diarrhea or constipation. Also, about 60% of the women with APS-1 who are younger than 30 years of age develop primary ovarian insufficiency.  Complications of APS-1 can affect the bones, joints, skin, and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and several internal organs (kidneys, liver, lungs and the spleen). Anemia may also be present due to a lack of production of the red blood cells. Type 1 diabetes also occurs in some patients with this condition. APS-1 is progressive, with symptoms appearing at different time intervals (chronic mucocutaneous candidiasis and hypoparathyroidism classically appear early in childhood, whereas adrenal insufficiency usually start in the second decade of life).  Diagnosis is suspected when  there are at least two of these features, specially in young people. APS-1 is caused by variations (mutations) in the AIRE gene. Inheritance is  autosomal recessive. Treatment may include hormone-replacement, and medication for candidiasis, as well as specific treatment of any complications. Patients with APS-1 are best followed by an endocrinologist and other specialists.    Most people with APS-1, develop earlier and more severe symptoms than people with  a related disease known as autoimmune polyendocrine syndrome type 2 (APS-2).

MalaCards based summary : Autoimmune Polyendocrine Syndrome Type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is related to chronic mucocutaneous candidiasis and hypoparathyroidism, and has symptoms including diarrhea An important gene associated with Autoimmune Polyendocrine Syndrome Type 1 is TDRD6 (Tudor Domain Containing 6), and among its related pathways/superpathways are Primary immunodeficiency and Neuroscience. The drugs Isoflurane and Propofol have been mentioned in the context of this disorder. Affiliated tissues include thyroid, skin and ovary, and related phenotypes are growth/size/body region and respiratory system

Disease Ontology : 12 An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

Wikipedia : 76 Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune... more...

Related Diseases for Autoimmune Polyendocrine Syndrome Type 1

Diseases in the Autoimmune Polyendocrine Syndrome family:

Autoimmune Polyendocrine Syndrome, Type Ii Autoimmune Polyendocrine Syndrome Type 1

Diseases related to Autoimmune Polyendocrine Syndrome Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 chronic mucocutaneous candidiasis 30.2 AIRE IL17A
2 hypoparathyroidism 29.9 AIRE CASR
3 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 28.3 AIRE CASR CYP21A2 DDC TH TPH1
4 autoimmune polyendocrine syndrome 28.3 AIRE CASR DDC IL17A NLRP5 TDRD6
5 hypoparathyroidism, familial isolated 10.5 AIRE CASR
6 parathyroid gland disease 10.5 AIRE CASR
7 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.4 AIRE IL17A
8 opportunistic mycosis 10.3 AIRE IL17A
9 borderline personality disorder 10.2 TPH1 TPH2
10 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2 AIRE DDC
11 mental depression 10.1 TPH1 TPH2
12 personality disorder 10.0 TPH1 TPH2
13 opiate dependence 10.0 TH TPH1
14 perry syndrome 10.0 TH TPH1
15 autoimmune addison disease 10.0 AIRE CYP21A2
16 supratentorial primitive neuroectodermal tumor 10.0 DDC TH
17 adrenal cortical hypofunction 10.0 AIRE CYP21A2
18 pure autonomic failure 10.0 DDC TH
19 systemic lupus erythematosus 9.9
20 autoimmune hepatitis 9.9
21 hepatitis 9.9
22 candidiasis 9.9
23 intestinal disease 9.9
24 neuronitis 9.9
25 vasculitis 9.9
26 lupus erythematosus 9.9
27 type i 9.9
28 hyperphenylalaninemia 9.8 TH TPH1
29 melanoma 9.8
30 phenylketonuria 9.8 TH TPH1
31 acute pancreatitis 9.7
32 pancreatitis 9.7
33 hypersensitivity reaction disease 9.7 AIRE IL17A
34 mood disorder 9.5 TH TPH1 TPH2
35 sudden infant death syndrome 9.5 TH TPH1 TPH2
36 hypoadrenocorticism, familial 9.4 AIRE CYP21A2 DDC
37 attention deficit-hyperactivity disorder 9.4 TH TPH1 TPH2
38 parkinson disease, late-onset 9.1 DDC TH TPH1

Graphical network of the top 20 diseases related to Autoimmune Polyendocrine Syndrome Type 1:



Diseases related to Autoimmune Polyendocrine Syndrome Type 1

Symptoms & Phenotypes for Autoimmune Polyendocrine Syndrome Type 1

UMLS symptoms related to Autoimmune Polyendocrine Syndrome Type 1:


diarrhea

MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.5 AIRE CASR DDC IL17A TH TPH1
2 respiratory system MP:0005388 9.02 AIRE IL17A TH TPH1 TPH2

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome Type 1

Drugs for Autoimmune Polyendocrine Syndrome Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
4 Anesthetics Phase 4
5 Anesthetics, General Phase 4
6 Anesthetics, Inhalation Phase 4
7 Anesthetics, Intravenous Phase 4
8 Central Nervous System Depressants Phase 4
9 Fat Emulsions, Intravenous Phase 4
10 Hypnotics and Sedatives Phase 4
11 Parenteral Nutrition Solutions Phase 4
12 Pharmaceutical Solutions Phase 4,Phase 2
13 Soybean oil, phospholipid emulsion Phase 4
14 Soy Bean Nutraceutical Phase 4
15
Tocopherol Approved, Investigational, Nutraceutical Phase 2, Phase 3 1406-66-2 14986
16
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3 59-02-9 14985
17 Tocopherols Phase 2, Phase 3
18 Tocotrienols Phase 2, Phase 3
19 Vitamins Phase 2, Phase 3
20 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3
21 Tocotrienol Investigational, Nutraceutical Phase 2, Phase 3 6829-55-6
22
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
23
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
24
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
25 Anti-Bacterial Agents Phase 2
26 Antifungal Agents Phase 2
27 Anti-Infective Agents Phase 2
28 Antiparasitic Agents Phase 2
29 Antiprotozoal Agents Phase 2
30 Autoantibodies Phase 2
31 Liposomal amphotericin B Phase 2
32 Analgesics Phase 2
33 Analgesics, Non-Narcotic Phase 2
34 Cannabinoid Receptor Agonists Phase 2
35 Hallucinogens Phase 2
36 Hormone Antagonists Phase 2
37 Hormones Phase 2
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
39 Neurotransmitter Agents Phase 2
40 Peripheral Nervous System Agents Phase 2
41 Psychotropic Drugs Phase 2
42 Olive Nutraceutical Phase 2
43
Silicon Approved, Investigational Not Applicable 7440-21-3 4082203
44 Sulfalene Not Applicable
45 Acidophilus Nutraceutical Not Applicable
46 Bifidobacterium Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Propofol and Perioperative Inflammation Completed NCT01115179 Phase 4 propofol;Intralipid 10%;Saline
2 Apremilast in the Treatment of Central Centrifugal Cicatricial Alopecia (CCCA) Recruiting NCT03521687 Phase 4 Apremilast
3 Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome. Unknown status NCT02070211 Phase 2, Phase 3
4 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
5 Cannabinoids for Behavioral Problems in Children With ASD Active, not recruiting NCT02956226 Phase 2 Cannabinoids - 99% pure cannabinoids mix;Placebo;Cannabinoids - whole plant extract
6 Does "Kinesio-taping" Affect Balance in Healthy Individuals? Completed NCT03219905 Not Applicable
7 Natural History of Individuals With Immune System Problems That Lead to Fungal Infections Recruiting NCT01386437
8 Efficacy of Vivomixx on Behaviour and Gut Function in Autism Spectrum Disorder Recruiting NCT03369431 Not Applicable
9 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome Type 1

Genetic Tests for Autoimmune Polyendocrine Syndrome Type 1

Anatomical Context for Autoimmune Polyendocrine Syndrome Type 1

MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome Type 1:

41
Thyroid, Skin, Ovary, Eye, Lung, Bone, Liver

Publications for Autoimmune Polyendocrine Syndrome Type 1

Articles related to Autoimmune Polyendocrine Syndrome Type 1:

(show all 39)
# Title Authors Year
1
Oral microbiota in autoimmune polyendocrine syndrome type 1. ( 29503707 )
2018
2
Rapid whole genome sequencing identifies a novel AIRE variant associated with Autoimmune Polyendocrine Syndrome Type 1. ( 29437776 )
2018
3
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study. ( 28446514 )
2017
4
A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 28540407 )
2017
5
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1. ( 28911151 )
2017
6
Clonal Analysis of Regulatory T Cell Defect in Patients with Autoimmune Polyendocrine Syndrome Type 1 Suggests Intrathymic Impairment. ( 28736829 )
2017
7
Assessment of autoantibodies to interferon-I8 in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay. ( 28099118 )
2017
8
Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1. ( 28557628 )
2017
9
Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1. ( 28919897 )
2017
10
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. ( 27253668 )
2016
11
Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1. ( 26830021 )
2016
12
Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism. ( 27219120 )
2016
13
Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1. ( 26312540 )
2015
14
Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens. ( 25475693 )
2015
15
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. ( 24792136 )
2014
16
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. ( 25361846 )
2014
17
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. ( 24988226 )
2014
18
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. ( 23365130 )
2013
19
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 23342054 )
2013
20
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. ( 23122533 )
2013
21
Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity. ( 23182718 )
2013
22
Autoimmune polyendocrine syndrome type 1: case report and review of literature. ( 22460196 )
2012
23
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. ( 21901851 )
2012
24
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. ( 22344197 )
2012
25
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. ( 22506635 )
2012
26
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. ( 21198756 )
2011
27
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. ( 21182094 )
2011
28
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. ( 20453472 )
2010
29
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. ( 19382990 )
2009
30
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. ( 19251657 )
2009
31
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. ( 19837919 )
2009
32
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). ( 19382992 )
2009
33
[Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. ( 18296018 )
2008
34
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. ( 18322283 )
2008
35
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. ( 17215373 )
2007
36
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. ( 17374709 )
2007
37
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. ( 17118990 )
2007
38
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. ( 11207636 )
2001
39
Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1. ( 10470707 )
1999

Variations for Autoimmune Polyendocrine Syndrome Type 1

Expression for Autoimmune Polyendocrine Syndrome Type 1

Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome Type 1.

Pathways for Autoimmune Polyendocrine Syndrome Type 1

Pathways related to Autoimmune Polyendocrine Syndrome Type 1 according to KEGG:

37
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

Pathways related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1 12.27 DDC TH TPH1 TPH2
3
Show member pathways
11.93 DDC TPH1 TPH2
4 11.83 DDC TH TPH1 TPH2
5 11.71 DDC TPH1 TPH2
6 11.54 DDC TH TPH1
7
Show member pathways
11.17 TH TPH2
8 11 DDC TH
9
Show member pathways
10.9 TH TPH1 TPH2
10 10.78 DDC TPH1 TPH2
11 10.64 DDC TH
12 10.54 DDC TH
13
Show member pathways
10.53 DDC TH TPH1 TPH2
14
Show member pathways
10.47 DDC TH TPH1

GO Terms for Autoimmune Polyendocrine Syndrome Type 1

Cellular components related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.13 CASR DDC TH
2 neuron projection GO:0043005 8.92 CASR TH TPH1 TPH2

Biological processes related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.86 CYP21A2 TH TPH1 TPH2
2 circadian rhythm GO:0007623 9.63 DDC TPH1 TPH2
3 cellular response to drug GO:0035690 9.6 DDC TH
4 response to nutrient levels GO:0031667 9.59 TH TPH2
5 cellular response to glucose stimulus GO:0071333 9.58 CASR TH
6 response to calcium ion GO:0051592 9.58 CASR TPH2
7 cellular response to growth factor stimulus GO:0071363 9.57 DDC TH
8 response to activity GO:0014823 9.55 TH TPH2
9 response to immobilization stress GO:0035902 9.54 TH TPH1
10 response to metal ion GO:0010038 9.52 CASR TH
11 multicellular organism aging GO:0010259 9.51 DDC TH
12 cellular response to alkaloid GO:0071312 9.49 DDC TH
13 dopamine biosynthetic process GO:0042416 9.48 DDC TH
14 catecholamine biosynthetic process GO:0042423 9.43 DDC TH
15 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.4 DDC TH
16 response to pyrethroid GO:0046684 9.37 DDC TH
17 aromatic amino acid family metabolic process GO:0009072 9.33 TH TPH1 TPH2
18 isoquinoline alkaloid metabolic process GO:0033076 9.32 DDC TH
19 phytoalexin metabolic process GO:0052314 9.26 DDC TH
20 indolalkylamine biosynthetic process GO:0046219 9.13 DDC TPH1 TPH2
21 serotonin biosynthetic process GO:0042427 8.8 DDC TPH1 TPH2

Molecular functions related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.62 CYP21A2 TH TPH1 TPH2
2 iron ion binding GO:0005506 9.46 CYP21A2 TH TPH1 TPH2
3 tryptophan 5-monooxygenase activity GO:0004510 9.26 TPH1 TPH2
4 amino acid binding GO:0016597 9.13 CASR DDC TH
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 8.8 TH TPH1 TPH2

Sources for Autoimmune Polyendocrine Syndrome Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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